# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.855 |
|
2 |
|
|
PLS009 |
Plasma Cell Neoplasm |
51 |
0.648 |
|
3 |
|
|
DWN001 |
Down Syndrome |
70 |
0.428 |
|
4 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.300 |
|
5 |
|
|
MYL005 |
Myelofibrosis |
70 |
0.236 |
|
6 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
44 |
0.232 |
|
7 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.198 |
|
8 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.185 |
|
9 |
|
c
|
ALM001 |
Al Amyloidosis |
50 |
0.185 |
|
10 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.181 |
|
11 |
|
|
FCT007 |
Factor Vii Deficiency |
67 |
0.167 |
|
12 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.157 |
|
13 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
0.157 |
|
14 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.157 |
|
15 |
|
|
48X005 |
48,xyyy |
39 |
0.157 |
|
16 |
|
|
MYL031 |
Myeloproliferative Neoplasm |
66 |
0.151 |
|
17 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.151 |
|
18 |
|
|
KPS004 |
Kaposi Sarcoma |
75 |
0.140 |
|
19 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.140 |
|
20 |
|
P
|
LKM002 |
Leukemia |
68 |
0.134 |
|
21 |
|
|
SRC014 |
Sarcoma |
65 |
0.134 |
|
22 |
|
|
HMT002 |
Hematologic Cancer |
62 |
0.134 |
|
23 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.134 |
|
24 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.134 |
|
25 |
|
P
|
TRN020 |
Turner Syndrome |
67 |
0.128 |
|
26 |
|
|
SFT003 |
Soft Tissue Sarcoma |
56 |
0.128 |
|
27 |
|
P
|
MLG074 |
Malignant Mesenchymoma |
40 |
0.128 |
|
28 |
|
|
PLS011 |
Plasmacytoma |
56 |
0.121 |
|
29 |
|
|
MCR004 |
Macroglobulinemia |
49 |
0.121 |
|
30 |
|
|
PLY001 |
Polycythemia Vera |
69 |
0.114 |
|
31 |
|
P
|
PLY018 |
Polycythemia |
56 |
0.114 |
|
32 |
|
c
|
PRM012 |
Primary Polycythemia |
50 |
0.114 |
|
33 |
|
|
SPL018 |
Splenomegaly |
48 |
0.114 |
|
34 |
|
P
|
HMN032 |
Human Herpesvirus 8 |
47 |
0.114 |
|
35 |
|
|
BNM001 |
Bone Marrow Cancer |
43 |
0.114 |
|
36 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.114 |
|
37 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.107 |
|
38 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.107 |
|
39 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.107 |
|
40 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.107 |
|
41 |
|
P
|
CNT005 |
Central Nervous System Lymphoma |
53 |
0.107 |
|
42 |
|
c
|
PRM226 |
Primary Central Nervous System Lymphoma |
48 |
0.107 |
|
43 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
81 |
0.099 |
|
44 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
72 |
0.099 |
|
45 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
0.099 |
|
46 |
|
P
|
GLM045 |
Glioma |
63 |
0.099 |
|
47 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
0.099 |
|
48 |
|
|
WLD007 |
Waldenstroem's Macroglobulinemia |
61 |
0.099 |
|
49 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.099 |
|
50 |
|
P
|
HYP726 |
Hypercalcemia, Infantile, 1 |
58 |
0.099 |
|
51 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.099 |
|
52 |
|
P
|
EXN002 |
Exanthem |
57 |
0.099 |
|
53 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
0.099 |
|
54 |
|
|
PLS016 |
Plasma Cell Leukemia |
53 |
0.099 |
|
55 |
|
|
RTC005 |
Reticulosarcoma |
47 |
0.099 |
|
56 |
|
|
LYM012 |
Lymphoplasmacytic Lymphoma |
47 |
0.099 |
|
57 |
|
|
CNT033 |
Central Nervous System Cancer |
47 |
0.099 |
|
58 |
|
c
|
MLG068 |
Malignant Glioma |
46 |
0.099 |
|
59 |
|
|
GLL048 |
Glial Tumor |
45 |
0.099 |
|
60 |
|
|
MXD026 |
Mixed Glioma |
45 |
0.099 |
|
61 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.090 |
|
62 |
|
P
|
PNM007 |
Pneumonia |
68 |
0.090 |
|
63 |
|
P
|
ESS003 |
Essential Thrombocythemia |
68 |
0.090 |
|
64 |
|
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
63 |
0.090 |
|
65 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.090 |
|
66 |
|
|
INT066 |
Interstitial Lung Disease |
60 |
0.090 |
|
67 |
|
|
LNG099 |
Lung Disease |
60 |
0.090 |
|
68 |
|
|
CNS004 |
Constipation |
58 |
0.090 |
|
69 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
0.090 |
|
|
71 |
|
|
THR024 |
Thrombosis |
57 |
0.090 |
|
72 |
|
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
54 |
0.090 |
|
73 |
|
|
TLN003 |
Telangiectasis |
52 |
0.090 |
|
74 |
|
|
THR004 |
Thrombocytosis |
51 |
0.090 |
|
75 |
|
P
|
SCK005 |
Sickle Cell Disease |
50 |
0.090 |
|
76 |
|
c
|
THR090 |
Thrombocythemia 1 |
49 |
0.090 |
|
77 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
0.090 |
|
78 |
|
c
|
DRR009 |
Diarrhea 6 |
46 |
0.090 |
|
79 |
|
|
LYM126 |
Lymphoma Aids Related |
44 |
0.090 |
|
80 |
|
|
CMP080 |
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy |
38 |
0.090 |
|
81 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
0.081 |
|
82 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
0.081 |
|
83 |
|
|
BRN028 |
Brain Cancer |
74 |
0.081 |
|
84 |
|
c
|
THR092 |
Thrombophilia Due to Thrombin Defect |
73 |
0.081 |
|
85 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.081 |
|
86 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
0.081 |
|
87 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.081 |
|
88 |
|
P
|
SYS005 |
Systemic Scleroderma |
68 |
0.081 |
|
89 |
|
|
ADR054 |
Adrenocortical Carcinoma, Hereditary |
66 |
0.081 |
|
90 |
|
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
0.081 |
|
91 |
|
|
MGK001 |
Megakaryocytic Leukemia |
64 |
0.081 |
|
92 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.081 |
|
93 |
|
P
|
BNG030 |
Benign Ependymoma |
60 |
0.081 |
|
94 |
|
|
LYM027 |
Lymphopenia |
58 |
0.081 |
|
95 |
|
|
CST005 |
Castleman Disease |
57 |
0.081 |
|
96 |
|
c
|
CHR417 |
Chronic Graft Versus Host Disease |
57 |
0.081 |
|
97 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.081 |
|
98 |
|
|
HYP266 |
Hypoxia |
57 |
0.081 |
|
99 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.081 |
|
100 |
|
P
|
NRF002 |
Neurofibromatosis |
56 |
0.081 |
|
101 |
|
|
CLL010 |
Cellular Ependymoma |
54 |
0.081 |
|
102 |
|
|
INT054 |
Intraocular Lymphoma |
48 |
0.081 |
|
103 |
|
|
MLT113 |
Multicentric Castleman Disease |
47 |
0.081 |
|
104 |
|
|
DFF039 |
Diffuse Midline Glioma, H3 K27m-Mutant |
36 |
0.081 |
|
105 |
|
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
34 |
0.081 |
|
106 |
|
|
HML018 |
Homologous Wasting Disease |
22 |
0.081 |
|
107 |
|
|
KSH003 |
Kshv Inflammatory Cytokine Syndrome |
16 |
0.081 |
|
108 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.070 |
|
109 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.070 |
|
110 |
|
c
|
NRF024 |
Neurofibromatosis, Type I |
77 |
0.070 |
|
111 |
|
|
ADR007 |
Adrenoleukodystrophy |
75 |
0.070 |
|
112 |
|
|
SCK003 |
Sickle Cell Anemia |
74 |
0.070 |
|
113 |
|
P
|
LPR021 |
Leprosy 3 |
69 |
0.070 |
|
114 |
|
|
HYL004 |
Hyaline Fibromatosis Syndrome |
67 |
0.070 |
|
115 |
|
c
|
JVN004 |
Juvenile Myelomonocytic Leukemia |
67 |
0.070 |
|
116 |
|
P
|
SKN015 |
Skin Carcinoma |
66 |
0.070 |
|
117 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.070 |
|
118 |
|
|
NRF007 |
Neurofibroma |
64 |
0.070 |
|
119 |
|
c
|
LCL006 |
Localized Scleroderma |
62 |
0.070 |
|
120 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.070 |
|
121 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.070 |
|
122 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
0.070 |
|
123 |
|
|
ANS011 |
Anus Cancer |
56 |
0.070 |
|
124 |
|
|
HMN014 |
Human Immunodeficiency Virus Infectious Disease |
55 |
0.070 |
|
125 |
|
|
ACT058 |
Active Peptic Ulcer Disease |
55 |
0.070 |
|
126 |
|
|
NTR018 |
Neutrophilia, Hereditary |
52 |
0.070 |
|
127 |
|
c
|
ACT135 |
Acute Graft Versus Host Disease |
52 |
0.070 |
|
128 |
|
c
|
AMY009 |
Amyloidosis Aa |
50 |
0.070 |
|
129 |
|
c
|
CHR418 |
Chronic Leukemia |
49 |
0.070 |
|
130 |
|
|
DFF035 |
Diffuse Cutaneous Systemic Sclerosis |
49 |
0.070 |
|
131 |
|
|
BRN071 |
Brain Injury |
49 |
0.070 |
|
132 |
|
|
ACT113 |
Acute Myeloblastic Leukemia with Maturation |
46 |
0.070 |
|
133 |
|
|
IDP033 |
Idiopathic Edema |
44 |
0.070 |
|
134 |
|
|
ANG011 |
Angiodysplasia |
43 |
0.070 |
|
135 |
|
|
DFF003 |
Diffuse Scleroderma |
41 |
0.070 |
|
136 |
|
|
LCR013 |
Lacrimal Duct Defect |
41 |
0.070 |
|
137 |
|
|
LGH004 |
Light Chain Deposition Disease |
40 |
0.070 |
|
138 |
|
|
HNS001 |
Hansen's Disease |
34 |
0.070 |
|
139 |
|
c
|
CHR064 |
Chronic Monocytic Leukemia |
33 |
0.070 |
|
140 |
|
|
ANS025 |
Anus Benign Neoplasm |
30 |
0.070 |
|
141 |
|
|
PRR019 |
Perioral Myoclonia with Absences |
27 |
0.070 |
|
142 |
|
|
PDG002 |
Pdgfrb-Associated Chronic Eosinophilic Leukemia |
27 |
0.070 |
|
143 |
|
|
NRF026 |
Neurofibromatosis, Type Iv, of Riccardi |
26 |
0.070 |
|
144 |
|
|
CRT084 |
Creatinine Clearance Quantitative Trait Locus |
25 |
0.070 |
|
145 |
|
|
CHR208 |
Chromosome 17p Deletion |
23 |
0.070 |
|
146 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
77 |
0.057 |
|
147 |
|
|
ANX010 |
Anxiety |
73 |
0.057 |
|
148 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
72 |
0.057 |
|
149 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.057 |
|
150 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.057 |
|
151 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.057 |
|
152 |
|
c
|
ACT068 |
Acute Cystitis |
63 |
0.057 |
|
153 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.057 |
|
154 |
|
P
|
THL005 |
Thalassemia |
60 |
0.057 |
|
155 |
|
|
IDP011 |
Idiopathic Interstitial Pneumonia |
59 |
0.057 |
|
156 |
|
|
PLM033 |
Pulmonary Embolism |
59 |
0.057 |
|
157 |
|
|
HMG005 |
Hemoglobinopathy |
56 |
0.057 |
|
158 |
|
P
|
PNC025 |
Panic Disorder |
53 |
0.057 |
|
159 |
|
|
RTN193 |
Retinitis Pigmentosa and Erythrocytic Microcytosis |
52 |
0.057 |
|
160 |
|
P
|
SML001 |
Small Cell Carcinoma |
52 |
0.057 |
|
161 |
|
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
0.057 |
|
162 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.057 |
|
163 |
|
|
HYP781 |
Hypoascorbemia |
51 |
0.057 |
|
164 |
|
|
ACT029 |
Acute Interstitial Pneumonia |
49 |
0.057 |
|
165 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
0.057 |
|
166 |
|
|
LNG020 |
Lung Oat Cell Carcinoma |
47 |
0.057 |
|
167 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.057 |
|
168 |
|
|
SPR126 |
Superior Semicircular Canal Dehiscence |
40 |
0.057 |
|
169 |
|
c
|
HMG029 |
Hemoglobin Se Disease |
39 |
0.057 |
|
170 |
|
c
|
CHR682 |
Chronic Bilirubin Encephalopathy |
39 |
0.057 |
|
171 |
|
|
BLD054 |
Blood Protein Disease |
38 |
0.057 |
|
172 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.057 |
|
173 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.040 |
|
174 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.040 |
|
175 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
79 |
0.040 |
|
176 |
|
P
|
HRT032 |
Heart Disease |
75 |
0.040 |
|
177 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.040 |
|
178 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.040 |
|
179 |
|
c
|
BTT014 |
Beta-Thalassemia |
74 |
0.040 |
|
180 |
|
|
SVR097 |
Severe Cutaneous Adverse Reaction |
69 |
0.040 |
|
181 |
|
|
CNN005 |
Connective Tissue Disease |
68 |
0.040 |
|
182 |
|
P
|
FLL037 |
Follicular Lymphoma |
67 |
0.040 |
|
183 |
|
P
|
MNN013 |
Meningitis |
66 |
0.040 |
|
184 |
|
|
PRT036 |
Peritonitis |
64 |
0.040 |
|
185 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
0.040 |
|
186 |
|
|
DRM006 |
Dermatitis |
61 |
0.040 |
|
187 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.040 |
|
188 |
|
|
NRL005 |
Neurilemmoma |
60 |
0.040 |
|
189 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.040 |
|
190 |
|
|
HPT019 |
Hepatic Encephalopathy |
60 |
0.040 |
|
191 |
|
|
PMS001 |
Poems Syndrome |
60 |
0.040 |
|
192 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.040 |
|
193 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.040 |
|
194 |
|
|
PRG009 |
Progressive Multifocal Leukoencephalopathy |
59 |
0.040 |
|
195 |
|
P
|
CYS018 |
Cystitis |
59 |
0.040 |
|
196 |
|
|
ERY003 |
Erythema Multiforme |
58 |
0.040 |
|
197 |
|
P
|
URT039 |
Urticaria |
58 |
0.040 |
|
198 |
|
P
|
ANG015 |
Angioedema |
57 |
0.040 |
|
199 |
|
c
|
ACT134 |
Acute Liver Failure |
56 |
0.040 |
|
200 |
|
c
|
ATM082 |
Autoimmune Lymphoproliferative Syndrome, Type V |
54 |
0.040 |
|
201 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.040 |
|
202 |
|
|
PPL022 |
Papilloma |
54 |
0.040 |
|
203 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
54 |
0.040 |
|
204 |
|
|
PNC001 |
Pancytopenia |
54 |
0.040 |
|
205 |
|
|
ILS001 |
Ileus |
51 |
0.040 |
|
206 |
|
|
URT001 |
Urethritis |
49 |
0.040 |
|
207 |
|
c
|
FLL041 |
Follicular Lymphoma 1 |
49 |
0.040 |
|
208 |
|
c
|
LKM056 |
Leukemia, Chronic Lymphocytic 2 |
48 |
0.040 |
|
209 |
|
|
MNC006 |
Monoclonal Gammopathy of Uncertain Significance |
48 |
0.040 |
|
210 |
|
P
|
LYM024 |
Lymphatic System Disease |
48 |
0.040 |
|
211 |
|
c
|
HMN021 |
Human T-Cell Leukemia Virus Type 1 |
47 |
0.040 |
|
212 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
47 |
0.040 |
|
213 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.040 |
|
214 |
|
|
SYN036 |
Syncope |
45 |
0.040 |
|
215 |
|
|
HPT004 |
Hepatic Coma |
45 |
0.040 |
|
216 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.040 |
|
217 |
|
|
DRG024 |
Drug Allergy |
42 |
0.040 |
|
218 |
|
c
|
THR111 |
Thrombocytopenia 3 |
38 |
0.040 |
|
219 |
|
|
SYS070 |
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood |
36 |
0.040 |
|
220 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.040 |
|
221 |
|
c
|
PRS136 |
Prostate Cancer, Hereditary, 6 |
33 |
0.040 |
|
222 |
|
c
|
PRS130 |
Prostate Cancer, Hereditary, 8 |
32 |
0.040 |
|
223 |
|
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
32 |
0.040 |
|
224 |
|
c
|
THR048 |
Thrombocytopenia 4 |
31 |
0.040 |
|
225 |
|
|
ERY066 |
Erythema Multiforme Major |
30 |
0.040 |
|
226 |
|
|
FTL029 |
Fetal Thalidomide Syndrome |
27 |
0.040 |
|